Canonical Allele Identifier: CA10491557

Gene: AMMECR1

Linked Data

• dbSNP Id: rs765373514
• ExAC: X:109507669 G / GT
• gnomAD v2: X-109507669-G-GT
• gnomAD v3: X-110264441-G-GT
• gnomAD v4: X-110264441-G-GT
• MyVariant Identifiers: chrX:g.109507671_109507672insT (hg19) ; chrX:g.109507670_109507671insT (hg19) ; chrX:g.109507669_109507670insT (hg19) ; chrX:g.110264442_110264443insT (hg38) ; chrX:g.110264441_110264442insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110264452dup , CM000685.2:g.110264452dup	GRCh38
NC_000023.10:g.109507680dup , CM000685.1:g.109507680dup	GRCh37
NC_000023.9:g.109394336dup	NCBI36
NG_016469.1:g.180792dup
NG_016469.2:g.180792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686065.1:c.584+47dup	ENSP00000509935.1:n.584+47dup
ENST00000262844.10:c.584+47dup MANE Select	ENSP00000262844.5:n.584+47dup
ENST00000680410.1:n.551+47dup
ENST00000262844.9:c.584+47dup	ENSP00000262844.5:n.584+47dup
ENST00000372057.1:c.215+47dup	ENSP00000361127.1:n.215+47dup
ENST00000372059.6:c.474-47810dup	ENSP00000361129.2:n.474-47810dup
ENST00000473662.1:n.284+47dup
NM_001025580.1:c.474-47810dup	NP_001020751.1:n.474-47810dup
NM_001171689.1:c.215+47dup	NP_001165160.1:n.215+47dup
NM_015365.2:c.584+47dup	NP_056180.1:n.584+47dup
NM_015365.3:c.584+47dup MANE Select	NP_056180.1:n.584+47dup
NM_001025580.2:c.474-47810dup	NP_001020751.1:n.474-47810dup
NM_001171689.2:c.215+47dup	NP_001165160.1:n.215+47dup